• Title/Summary/Keyword: Y chromosome

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The association of PBX1 polymorphisms with overweight/obesity and metabolic alterations in the Korean population

  • Ban, Ju-Yeon;Kang, Soon-Ah;Jung, Kyung-Hee;Kim, Hak-Jae;Uhm, Yoon-Kyung;Kim, Su-Kang;Yim, Sung-Vin;Choe, Bong-Keun;Hong, Seung-Jae;Seong, Yeon-Hee;Koh, In-Song;Chung, Joo-Ho
    • Nutrition Research and Practice
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    • v.2 no.4
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    • pp.289-294
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    • 2008
  • Pre-B-cell leukemia transcription factor 1 (PBX1), which is located on chromosome 1q23, was recently reported to be associated with type 2 diabetes mellitus. We examined whether single nucleotide polymorphisms (SNPs) of the PBX1 gene are associated with overweight/obesity in a Korean population. We genotyped 66 SNPs in the PBX1 gene and investigated their association with clinical phenotypes found in 214 overweight/obese subjects and 160 control subjects using the Affymetrix Targeted Genotyping chip array. Seven SNPs (g.+75l86C>T, g.+78350C>A, g.+80646C>T, g.+138004C>T, g.+185219G>A, g.+191272A>C, and g.+265317T>A) were associated with the risk of obesity in three models (codominant, dominant, and recessive) (P=0.007-0.05). Haplotype 1 (CAC) and 3 (TAC) of block 3 and haplotype 2 (GGAAT) of block 10 were also strongly associated with the risk of obesity. In the control group, subjects that had homozygote for the major allele for both g.+185219G>A and g.+191272A>C showed lower high density lipoprotein-cholesterol (HDL-C) level compared to those possessing the minor allele, suggesting that the association between the homozygote for the major allele for both g.+185219G>A and g.+191272A>C and HDL-C is attributable to the increased risk of obesity. This study suggests that the PBX1 gene is a possible risk factor in overweight/obese patients.

Studies on Artificial Polyploid Forest Trees V -On Morphological Characteristics in Colchitetraploids Pinus densiflora (인위배수성임목(人爲倍數性林木)에 관(關)한 연구(硏究) V -Colchitetraploids Pinus densiflora의 외부형태(外部形態)에 대(對)하여)

  • Kim, Chung Suk
    • Journal of Korean Society of Forest Science
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    • v.7 no.1
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    • pp.19-27
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    • 1968
  • As a preliminary investigation to obtain useful auto- and allopolyploids a ten year old tetraploid of Pinus densiflora induced from the colchicine treated seed was observed on the cytological, morphological and physioa logical characters in the present study and the results can be summarized as follows. 1. The number of chromosome at the base of needle was 48 so that it was recognized as a tetraploid. 2. The needles were thicker and the number of them on an individual was less than the 2n plant. The needle combined to a single was appeared 2%. 3. No difference was found in the number of stomata rows on the central part of needle between the tetraploid and 2n plant, however, guard cells of tetraploid increased 36% in the long diameter compared with 2n plant. 4. Microsporangiate storbile developed normally showing the same size with 2n plant while the size of pollen grain increased about 20% larger than 2n plant. 5. Germination percentage in vitro increased until 17 hours but decreased after 26 hours compared with 2n plant. The longest length of pollen tube during the germination period appeared in the tetraploid pollen.

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A reappraisal of Sambucus pendula Nakai on Ulleung Island and its allies (울릉도 말오줌나무와 근연종의 재검토)

  • Lim, Hyo-In;Chang, Kae Sun;Lee, Heung Soo;Chang, Chin-Sung;Kim, Hui
    • Korean Journal of Plant Taxonomy
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    • v.39 no.3
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    • pp.181-192
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    • 2009
  • Sambucus pendula Nakai, which is an endemic on Ulleung Island of Korea, is characterized by a large pendulous inflorescence and small fruit. A set of 256 individuals were used to investigate the patterns of intraspecific variation of S. racemosa subsp. kamtchatica, S. racemosa subsp. sieboldiana, and S. williamsii including S. pendula using PCA (principal components analysis). This analysis showed that S. pendula was distinct based on its large inflorescence and long peduncle. Our data showed a morphological distinction between subsp. kamtchatica from northeastern areas and subsp. sieboldiana from Jeju Island, but the two taxa overlap in the southern and eastern parts of Korea in terms of chromosome number, color of style, and allozyme data. Our study agrees that S. pendula on Ulleung Island may be the result of genetic drift that occurred during isolation since the Quarternary period. This has been suggested as a reason for the genetic differences observed between two taxa and would explain the unique variation patterns of S. pendula. However, the morphological differentiation between the S. racemosa complex and S. pendula is not considered sufficient to warrant recognition of specific status. Therefore, we recommend that only one polymorphic species of S. racemosa in Eurasia be recognized and that S. pendula be considered a subspecies of S. racemosa.

Discontinuous Percoll Gradients Enrich X-Bearing Porcine Sperms and Female Embryos (불연속 Percoll 원심분리에 의한 돼지 X-정자와 자성배아에 관한 연구)

  • Shim, Dae-Yong;Yoo, Seong-Jin;Kang, Han-Seung;Yoo, Jeong-Min;Lee, Chae-Kwan;Kang, Sung-Goo
    • Development and Reproduction
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    • v.5 no.1
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    • pp.47-52
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    • 2001
  • Predetermination of sex in livestock of offpring is in great demand and is of critical importance to providing for the most efficient production of the animal ariculture. Such a sexing techlology would also enhance the economy of conventional artificial insemination(AI) and aid the porcine industry. The purpose of this study was to evaluate the efficiency of enriching X-bearing porcine sperm using discontinuous percoll gradients and PCR mefhod. Semen was collected from mature boars of proven fertility center (AI center KimHae). Sperm was leaded on the isotonic discontinuous percoll gradient and then it was centrifuged at 120 ${\times}$ g for 20 minutes. After centrifugation, sperm included in each fraction were recovered (7${\times}$10$^6$ sperms/ml) and then sperm genomic DNA was extractedfor the PCR. SRY gene was used to evaluate the ratio between X and Y sperm in the separated fractions. Ju viro ffrtilization wascarried out by adding the unseparated sperm (control) or separated (experimental poop) to the matured oocytes in TCM-199. Embryos for sex determination were obtained at 2 cell stage and then was used for SRY gene amplification. After centrifugation of discontinuous percoll gradient, the most motile sperm was obtained at 95% fiaction (94.4% ${\pm}$ 5.1%, p < 0.01). The PCR analysis evaluated that 30%, 50% and 65% fractions were Y sperm rich, whereas 80% and 95% fractions were X sperm rich. PCR analysis with each porcineembryo showed that 33.3% of control and 66.7% of experimental group were determined as female embryos. In conclusion, in vitro matured oocytes inseminated with sperms (95% fraction) prepared by percoll gradient centrifugation showed high fertilization rates and female embryos than control sperms.

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Cattle Age Prediction by Leukocytes Telomere Quantification (혈액세포의 텔로미어 함량을 이용한 소의 연령예측)

  • Choi, Na-Eun;Kim, Hyun-Sub;Choe, Chang-Yong;Jeon, Gwang-Joo;Sohn, Sea-Hwan
    • Journal of Animal Science and Technology
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    • v.52 no.5
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    • pp.367-374
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    • 2010
  • Telomeres at the end of chromosomes consist of tandem repeats of (TTAGGG)n DNA sequence and associated proteins. Telomeres have the essential functions in chromosome stability and genome integrity and are hence related to cell senescence and cancer. This study was carried out to quantify the amount of telomeric DNA and establish age prediction equations by using the quantity of telomeric DNA for cattle. Analysis of the telomere quantity of the lymphocytes was performed at different age, across breeds and between different sexes of cattle. We quantified the amount of telomeric DNA by the Q-FISH technique using the telomeric DNA probe in 460 cattle at age of 1~166 months in Korean Cattle and Holstein breeds. In results, we found that the amount of telomeric DNA decreased gradually with age. The amount of telomeric DNA of Korean Cattle was significantly higher than that of Holstein breed (P<0.01). In addition, the amount of telomeric DNA in male was significantly higher than that in female (P<0.01). Using the relationship between age and the amount of telomeric DNA in cattle, age predicting equations were established as a result of regression analysis. Because sex and breeds influenced telomeric DNA quantity, the age prediction equations were estimated separately in Korean Cattle females and Holstein females. The regression equations were $\hat{Y}$=$38.102X^2$-220.103X + 318.309 (P<0.0001, $R^2$=0.8019) in Korean Cattle females and $\hat{Y}$ = $42.799X^2$ - 199.682X + 242.106 (P<0.0001, $R^2$ = 0.8379) in Holstein females, where the X was quantity of telomeric DNA and Y was predicted age in months. These equations predicted the age of cattle with high significance and accuracy and have high R square values. Thus, it could be possible to scientifically predict the age using the above equations for Korean Cattle and Holstein females.

The Production of Sex Determined Cattle by Embryonic Sexing Using Fluorescence In Situ Hybridization Technique (FISH 기법을 이용한 소 수정란의 성감별과 산자 생산)

  • Sohn, S.H.;Park, H.
    • Proceedings of the Korean Society of Embryo Transfer Conference
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    • 2007.05a
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    • pp.39-50
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    • 2007
  • Sexing from bovine embryos fertilized in vitro implicates a possibility of the sex controlled cattle production. This study was carried out to produce the sex determined cattle through the embryonic sexing by fluorescence in situ hybridization (FISH) technique. FISH was achieved in in vitro fertilized bovine embryos using a bovine Y-specific DNA probe constructed from the btDYZ-1 sequence. Using this probe, a male-specific signal was detected on 100% of Y-chromosome bearing metaphase specimens. The analyzable rate of embryonic sexing by FISH technique was about 93% (365/393) regardless of embryonic stages. As tested single blastomere by FISH and then karyotype with their biopsied embryos, the accuracy of sex determination with FISH was 97.6%. We tried the embryo transfer with sex determined embryos on 15 cattle. Among them, the 5 cattle delivered calf with expected sex last year.

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Discrimination of Hanwoo from Holstein and Mixed Beef by DHPLC (변성 고성능 액체 크로마토그래피를 이용한 한우, 젖소 그리고 혼입육의 구분)

  • Ahn, Young-Chang;Cho, Min-Ho;Seo, Jae-Won;Yoon, Il-Kyu;Jung, Duck-Hyun;Lee, Eun-Young;Nam, Youn-Hyoung;Park, Su-Min;Jang, Won-Cheoul
    • Journal of the Korean Chemical Society
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    • v.53 no.6
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    • pp.742-748
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    • 2009
  • In the meat industry, correct breed information in food labeling is required to assure meat quality. Genetic markers provide corroborating evidence to identify breed. We described the development of DNA markers to discriminate between Korean beef cattle (Hanwoo), Holstein, and mixed cow beefs. As most breeds are standardized for coat colour, the melanocortin 1 receptor (MC1R) gene, involved in the regulation of eu/pheomelanins synthesis, has been suggested as marker for breed traceability of products of animal origin. We also designed sex-determining region Y (SRY) gene specific primers for Y chromosome detection. In this study, fragments of MC1R gene and SRY gene were amplified by multiplex-PCR and subjected to digestion by MspA1I restriction endonuclease. Reaction products were analysised by denaturing high performance liquid chromatography (DHPLC). As a result, we identified 6 DHPLC peak types from MC1R gene and SRY gene analysis. DHPLC method showed more sensitive than RFLP method for DNA fragments analysis. Therefore, DHPLC method can apply to identify for Hanwoo, Holstein and mixed beef.

Stable Transmission and Continuous Expression of Human Interleukin-10 Transgene in the Offspring of Transgenic Mice (형질전환 생쥐의 후대에서 인간 Interleukin-10 유전자의 안정적 전이와 지속적인 발현)

  • Zheng Z. Y.;Koo D. B.;Han Y. M.;Lee K. K.
    • Reproductive and Developmental Biology
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    • v.28 no.3
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    • pp.203-207
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    • 2004
  • The transgenic mice carrying human Interleukin-10 (hIL-10) gene in conjunction with bovine (3 -casein promoter express hIL-10 in milk during lactation. In this study, stability of germ line transmission and expression of hIL-10 transgene integrated into host chromosome were monitored up to generation F8 of transgenic mice. When male mouse of generation F8 was crossbred with normal females, approximately half of offspring (50.9±5.8%) were identified as transgenic mice. Generation F9 to F15 mice also showed similar transmission rates (66.0±20.1%, 61.5±16.7%, 41.1±8.4%, 40.7±20.3%, 61.3±10.8%, 49.2±18.8% and 43.8±25.9%, respectively), implying that hIL-10 transgene can be transmitted stably up to long term generation in the transgenic mice. Expression levels of human IL-10 from milk of generation F9 to F14 mice were 3.6± 1.2 mg/ml, 4.2±0.9 mg/ml, 5.7±1.5 mg/ml, 6.3±3.5 mg/ml, 6.8±4.5 mg/ml and 6.8±3.1 mg/ml, respectively, which was showed high-level expression compared with that of generation F1 (1.6 mg/ml) mice. In conclusion, our results suggest that transgenic mice can be continuously passed their transgenes to the progeny through the breeding program with the same productivity of human IL-10 protein in their milk.

Validation of QF-PCR for Rapid Prenatal Diagnosis of Common Chromosomal Aneuploidies in Korea

  • Han, Sung-Hee;Ryu, Jae-Song;An, Jeong-Wook;Park, Ok-Kyoung;Yoon, Hye-Ryoung;Yang, Young-Ho;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.59-66
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    • 2010
  • Purpose: Quantitative fluorescent polymerase chain reaction (QF-PCR) allows for the rapid prenatal diagnosis of common aneuploidies. The main advantages of this assay are its low cost, speed, and automation, allowing for large-scale application. However, despite these advantages, it is not a routine method for prenatal aneuploidy screening in Korea. Our objective in the present study was to validate the performance of QF-PCR using short tandem repeat (STR) markers in a Korean population as a means for rapid prenatal diagnosis. Material and Methods: A QF-PCR assay using an Elucigene kit (Gen-Probe, Abingdon, UK), containing 20 STR markers located on chromosomes 13, 18, 21, X and Y, was performed on 847 amniotic fluid (AF) samples for prenatal aneuploidy screening referred for prenatal aneuploidy screening from 2007 to 2009. The results were then compared to those obtained using conventional cytogenetic analysis. To evaluate the informativity of STR markers, the heterozygosity index of each marker was determined in all the samples. Results: Three autosomes (13, 18, and 21) and X and Y chromosome aneuploidies were detected in 19 cases (2.2%, 19/847) after QF-PCR analysis of the 847 AF samples. Their results are identical to those of conventional cytogenetic analysis, with 100% positive predictive value. However, after cytogenetic analysis, 7 cases (0.8%, 7/847) were found to have 5 balanced and 2 unbalanced chromosomal abnormalities that were not detected by QF-PCR. The STR markers had a slightly low heterozygosity index (average: 0.76) compared to those reported in Caucasians (average: 0.80). Submicroscopic duplication of D13S634 marker, which might be a unique finding in Koreans, was detected in 1.4% (12/847) of the samples in the present study. Conclusion: A QF-PCR assay for prenatal aneuploidy screening was validated in our institution and proved to be efficient and reliable. However, we suggest that each laboratory must perform an independent validation test for each STR marker in order to develop interpretation guidelines of the results and must integrate QF-PCR into the routine cytogenetic laboratory workflow.

Analysis of the Amount of Telomeric DNA and Telomerase Activity on Preimplantation Mouse Embryoic Cells (마우스 수정란의 초기 배 발생단계별 Telomeric DNA의 양적 분석과 Telomerase 활성도 분석)

  • Kang M. Y.;Han M. S.;Lee S. C.;Kim J. H.;Sohn S. H.
    • Reproductive and Developmental Biology
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    • v.29 no.1
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    • pp.1-7
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    • 2005
  • Telomeres consisting of (TTAGGG)n tandem repeat DNA sequences and associated proteins are essential for chromosome stability and related with cell senescence, apoptosis and cancer. The telomerase is a ribonucleoprotein which act as a template for the synthesis of telomeric DNA. This study was carried out to identify the distribution of telomeres on mouse chromosomes and also to analyze the amount of telomeres and telomerase activity of mouse embryos at early embryonic stages. Germ cells and early embryos from 1 cell to blastocyst stage were analyzed. The amount of telomeres was analyzed by quantitative fluorescence in situ hybridization technique(Q-FISH) using a human telomeric DNA probe, and telomerase activity was measured by telomeric repeat amplification protocol assay(TRAP). In results, the telomeres on mouse chromosomes were distributed at the ends of all autosomes and sex chromosomes. Although the quantity of telomeres varied among chromosomes, most of chromosomes had higher amount in q-arm telomeres than in p-arm telomeres. The results of Q-FISH indicated that the relative amount of telomeres of mouse embryos in each embryonic stage was approximately the same except the higher amount in blastocysts. Using TRAP assay on mouse embryos, telomerase activity was detected in all preimplantation stages from mature oocytes to blastocysts. Especially the telomerase activity was significantly increased at the morula and blastocyst stage. In conclusion, there may be a close association between the amount of telomeres and telomerase activity in early embryonic stages, and analysis of telomere quantity and telomerase activity on early development will be helpful for the investigation of embryogenesis and embryonic cell differentiation in mice.